As illustrated by the difficulties encountered in identifying the causative gene/s in the 22q11.2 region, identification of the causative genes in the newly implicated chromosomal regions may not be straightforward. Perhaps the most promising gene implicated to date is the neurexin 1 gene (NRXNA1), which is located in the deleted region on chromosome 2p16. Smaller chromosomal aberrations that specifically affect this gene have already been identified (Kirov et al., 2008; Vrijenhoek et al., 2008; Rujescu et al., 2009).
